Results 31 to 40 of about 872,130 (197)

Sensorineural Hearing Loss in β-Thalassaemia Major

, 2023
Cross-sectional study assessing the hearing phenotype of adults diagnosed with β-Thalassaemia ...
Eleftheria Iliadou, Athanasios Bibas
core   +1 more source

A comprehensive review of hydroxyurea for β-haemoglobinopathies: the role revisited during COVID-19 pandemic

Orphanet Journal of Rare Diseases, 2021
Background Hydroxyurea is one of the earliest drugs that showed promise in the management of haemoglobinopathies that include β-thalassaemia and sickle cell disease.
Nirmani Yasara, Anuja Premawardhena, Sachith Mettananda   +2 more
doaj   +1 more source

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)

Genes and Diseases, 2021
The incidence of haemoglobinopathy is high in China, especially south of the Yangtze River. However, the exact status of haemoglobinopathy in Sichuan is unknown.
Xia Yu, Min Lin, Chenggui Liu, Zhiyong Liao, Yongqiong Wei, Rui Liu, Jing Zhu   +6 more
doaj   +1 more source

Clinical experience using peripheral blood parameters to analyse the mutation type of thalassemia carriers in pregnant women

Journal of Obstetrics and Gynaecology, 2023
Thalassaemia is a typically monogenic disease caused by mutations or deletions in the globin gene and has a high prevalence in southern China. Prenatal screening for thalassaemia can be effective in reducing the incidence of thalassaemia.
Songshan Zhu, Jun Yin, Yu Luo, Yanyun Chen, Zhongyuan Lin, Xiafei Fu, Hua Li, Hangjiu Su   +7 more
doaj   +1 more source

The safety and effectiveness of genetically corrected iPSCs derived from β-thalassaemia patients in nonmyeloablative β-thalassaemic mice

Stem Cell Research & Therapy, 2020
Background β-Thalassaemia is a clinically common cause of hereditary haemolytic anaemia stemming from mutations in important functional regions of the β-globin gene. The rapid development of gene editing technology and induced pluripotent stem cell (iPSC)
Yexing Xian, Yingjun Xie, Bing Song, Zhanhui Ou, Shuming Ouyang, Yuhuan Xie, Yi Yang, Zeyu Xiong, Haoxian Li, Xiaofang Sun   +9 more
doaj   +1 more source

Co-Incidence or Co-Existence? Acute Lymphoblastic Leukaemia in HbE-alpha Thalassaemia: A Case Report with Review of Literature [PDF]

Journal of Clinical and Diagnostic Research, 2015
Haemoglobin E (HbE) is a Haemoglobin variant that commonly occurs in many places in Asia. As β thalassaemia and α thalassaemia also occur in the same regions, the co-inheritance of these conditions leads to various phenotypic forms.
Rithika Rajendran, Febe Renjitha Suman, Aruna Rajendran, Julius Xavier Scott   +3 more
doaj   +1 more source

A Rare Case of Compound Heterozygous Sickle Cell Beta Thalassaemia with High HbF and Normal HbA2 Levels Detected on HPLC [PDF]

Journal of Clinical and Diagnostic Research
Compound heterozygous Sickle Haemoglobin (HbS) beta (β) thalassaemia arises from the mutations associated with sickle cell and β thalassaemia and significantly affects populations in low income countries like India.
Ruchi Agarwal, Sunaina Hooda, parul, Kulwant Singh, Adesh Thombre   +4 more
doaj   +1 more source

Haematopoietic stem cell transplantation in thalassaemia major: A narrative review

Advances in Human Biology, 2023
Thalassaemia constitutes an especially prevalent human monogenic illness caused by a lack of synthesis of the α- or β-globin chains. The clinical impact of β-thalassaemia is worse since it consists of the same pair gene configuration, thalassaemia major,
Rabeya Yousuf, Dilshad Jahan, Susmita Sinha, Mainul Haque   +3 more
doaj   +1 more source

Expression of CD55, CD59, and CD35 on red blood cells of β-thalassaemia patients

, 2017
Aim of the study : β-thalassaemia (β-Thal) is considered a severe, progressive haemolytic anaemia, which needs regular blood transfusions for life expectancy.
Mustafa Yildiz, Erdal Kurtoğlu, Ayşegül Uğur Kurtoğllu, Belkls Koçtekin, Selen Bozkurt   +4 more
core   +1 more source

Hepatic and renal functions of paediatric patients with thalassaemia: a cross-sectional study from two large thalassaemia centres in Sri Lanka

BMJ Open
Objectives Thalassaemia is a genetic disorder of haemoglobin synthesis characterised by life-long chronic anaemia. Although the endocrine and cardiac complications of thalassaemia are well-studied, hepatic and renal complications are understudied.
Meranthi Fernando, Anuja Premawardhena, Sachith Mettananda, Hashan Pathiraja, Wasana Wijenayake, Raveen Thennakoon, Dayananda Bandara, Roshitha De Silva   +7 more
doaj   +1 more source